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Rare Diseases starting with a "P"
■P2Y12 deficiency ■Pachydermoperiostosis ■Pachygyria - epilepsy - intellectual deficit - dysmorphism ■Pachygyria - intellectual deficit - epilepsy ■Pachyonychia congenita ■Pachyonychia congenita, Jackson-Lawler type ■Pachyonychia congenita, Jadassohn-Lewandowsky type ■Pacman dysplasia ■PACNS ■PAD ■PAF ■Pagetoid amyotrophic lateral sclerosis ■Pagetoid neuroskeletal syndrome ■Pagetoid reticulosis, Woringer-Kolopp type ■Paget's disease of the nipple ■PAGOD syndrome ■Pagon-Stephan syndrome ■Painful bladder syndrome ■Painful congenital myotonia ■Painful myotonia ■Painful ophthalmoplegia ■PAIS ■Pai syndrome ■Palatodigital syndrome, type Catel-Manzke ■Pallidopyramidal syndrome ■Pallister-Hall syndrome ■Pallister-Killian syndrome ■Pallister-W syndrome ■Palmer-Pagon syndrome ■Palmoplantar hyperkeratosis - deafness ■Palmoplantar hyperkeratosis - hearing loss ■Palmoplantar keratoderma - amyotrophy ■Palmoplantar keratoderma and congenital alopecia, Stevanovic type ■Palmoplantar keratoderma and congenital alopecia, Wallis type ■Palmoplantar keratoderma - deafness ■Palmoplantar keratoderma - hearing loss ■Palmoplantar keratoderma - sclerodactyly ■Palmoplantar keratoderma - spastic paralysis ■Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma ■Palmoplantar keratosis, focal and gingival ■Palmoplantar porokeratosis of Mantoux ■Palmoplantar punctate keratoderma type 1 ■Palmoplantar punctate keratoderma type 2 ■Palmoplantar pustulosis ■PAM ■Panayiotopoulos syndrome ■Pancreatic adenoma ■Pancreatic and cerebellar agenesis ■Pancreatic beta cell agenesis with neonatal diabetes mellitus ■Pancreatic cancer ■Pancreatic carcinoma ■Pancreatic endocrine tumor ■Pancreatic hypoplasia - diabetes - heart disease ■Pancreatic insufficiency - anemia - hyperostosis ■Pancreatic polypeptidoma ■Pancreatoblastoma ■PANDAS ■Panhypophysitis ■Panhypopituitarism ■Panner disease ■PAN, pediatric onset ■Pantothenate-kinase-associated neurodegeneration ■PAPA syndrome ■Papillary carcinoma of the cervix uteri ■Papillary carcinoma of the corpus uteri ■Papillary fibroelastoma of the heart ■Papillary glioneuronal tumor ■Papillary or follicular thyroid carcinoma ■Papillary thyroid carcinoma with renal papillary neoplasia ■Papillary tumour of the pineal region ■Papilloma of choroid plexus ■Papillon-Leage-Psaume syndrome ■Papillon-Lefèvre syndrome ■Papillo-renal syndrome ■Papular atrichia ■Papular elastorrhexis ■Papular mucinosis of infancy ■Papular xanthoma ■Parachute tricuspid valve ■Paracoccidioidomycosis ■Paradoxical fasting hyperammonemia ■Paraganglioma and gastric stromal sarcoma ■Parahemophilia ■Paramedian nasal cleft ■Paramyotonia congenita ■Paramyotonia congenita of Von Eulenburg ■Parana hard-skin syndrome ■Paraneoplastic Cushing syndrome ■Paraneoplastic pemphigus ■Paraneoplastic retinopathy ■Paraparetic variant of GBS ■Paraparetic variant of Guillain-Barré syndrome ■Paraplegia - brachydactyly - cone-shaped epiphysis ■Paraplegia - intellectual deficit - hyperkeratosis ■Paraquat poisoning ■Parastremmatic dwarfism ■Parathyroid carcinoma ■PARC syndrome ■Parietal encephalocele ■Parietal foramina ■Parietal foramina with cleidocranial dysostosis ■Parietal foramina with cleidocranial dysplasia ■Paris-Trousseau thrombocytopenia ■Parkes-Weber syndrome ■Parkinsonian-pyramidal syndrome ■Parkinsonism-dementia-ALS complex ■Parkinsonism with dementia of Guadeloupe ■Paroxysmal cold hemoglobinuria ■Paroxysmal dyskinesia ■Paroxysmal exertion-induced dyskinesia ■Paroxysmal extreme pain disorder ■Paroxysmal hemicrania ■Paroxysmal hypnogenic dyskinesia ■Paroxysmal kinesigenic dyskinesia ■Paroxysmal nocturnal hemoglobinuria ■Paroxysmal non-kinesigenic dyskinesia ■Paroxysmal ventricular fibrillation ■Parry-Romberg syndrome ■Parsonage-Turner syndrome ■Partial acquired lipodystrophy ■Partial albinism - immunodeficiency ■Partial androgen insensitivity syndrome ■Partial androgen resistance syndrome ■Partial atrioventricular canal ■Partial chromosome Y deletion ■Partial congenital cataract ■Partial cryptophthalmia ■Partial deep dermal and full thickness burns ■Partial deletion 11q ■Partial epilepsy with auditory aura ■Partial epilepsy with auditory features ■Partial facial palsy with urinary abnormalities ■Partial gigantism - nevi - hemihypertrophy - macrocephaly ■Partial LCAT deficiency ■Partial mevalonate kinase deficiency with recurrent fever +/- hyperIgD ■Partial molar pregnancy ■Partial pancreas agenesis ■Partial prune belly syndrome ■Partial situs inversus ■Partial unilateral facial paresis ■Partington amyloidosis ■Partington-Anderson syndrome ■Partington disease ■Partington-Mulley syndrome ■Partington syndrome ■Parvovirus antenatal infection ■Pascual-Castroviejo syndrome type 1 ■Pascual-Castroviejo syndrome type 2 ■Pashayan syndrome ■Passwell-Goodman-Siprkowski syndrome ■Patau syndrome ■Patella aplasia - coxa vara - tarsal synostosis ■Patellofemoral syndrome ■Patent arterial duct ■Patent arterial duct - bicuspid aortic valve - hand anomalies ■Patent ductus arteriosus ■Patent ductus arteriosus - bicuspid aortic valve - hand anomalies ■Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits ■Patent foramen ovale ■Paternal 14q32.2 hypomethylation syndrome ■Paternal 14q32.2 microdeletion syndrome ■Paternal 20q13.2q13.3 microdeletion syndrome ■Paternal 20q13.2-q13.3 microdeletion syndrome ■Paternal del (14)(q32.2) ■Paternal del(20)(q13.2q13.3) ■Paternal monosomy 14q32.2 ■Paternal monosomy 20q13.2q13.3 ■Paternal monosomy 20q13.2-q13.3 ■Paternal uniparental disomy of chromosome 1 ■Paternal uniparental disomy of chromosome 13 ■Paternal uniparental disomy of chromosome 14 ■Paternal uniparental disomy of chromosome 20 ■Paternal uniparental disomy of chromosome 21 ■Paternal uniparental disomy of chromosome 5 ■Paternal uniparental disomy of chromosome 6 ■Paternal uniparental disomy of chromosome 7 ■Paternal uniparental disomy of chromosome X ■Patterson-Stevenson-Fontaine syndrome ■Patterson-Stevenson syndrome ■PATX ■Pauciarticular chronic arthritis ■Pauciarticular chronic arthritis with anti-nuclear antibodies ■Pauciarticular chronic arthritis without anti-nuclear antibodies ■Pauci-immune glomerulonephritis ■Pauci-immune glomerulonephritis with ANCA ■Pauci-immune glomerulonephritis without ANCA ■PBCRA ■PCA ■PCARP ■PCB variant of GBS ■PCB variant of Guillain-Barré syndrome ■PCCA ■PCFCL ■PCH ■PCH with optic atrophy ■PCH without dyskinesia ■PCI deficiency ■PCLBCL,LT ■PCMZL ■PCNSL ■PCT ■PCWH ■PDALS ■PDH phosphatase deficiency ■PDP ■PDS ■Pearson syndrome ■Pectus excavatum - macrocephaly - dysplastic nails ■Pediatric Autoimmune Disorders Associated with Streptococcus infections ■Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infections ■Pediatric Behcet disease ■Pediatric Castleman disease ■Pediatric familial mediterranean fever ■Pediatric-onset Wegener granulomatosis ■Pediatric periodic disease ■Pediatric polyarteritis nodosa ■Pediatric Sjögren syndrome ■Pediatric systemic lupus erythematosus ■Pediatric systemic scleroderma ■Pediatric systemic sclerosis ■Peeling skin syndrome ■PEHO-like syndrome ■PEHO syndrome ■PEL ■Pelizaeus-Merzbacher brain sclerosis ■Pelizaeus-Merzbacher disease ■Pelizaeus-Merzbacher disease, classic form ■Pelizaeus-Merzbacher disease, connatal form ■Pelizaeus-Merzbacher disease in female carriers ■Pelizaeus-Merzbacher disease, null syndrome ■Pelizaeus-Merzbacher disease, transitional form ■Pelizaeus-Merzbacher-like due to AIMP1 mutation ■Pelizaeus-Merzbacher-like due to GJC2 mutation ■Pelizaeus-Merzbacher-like due to HSPD1 mutation ■Pelizaeus-Merzbacher-like due to SLC16A2 mutation ■Pellagra ■Pellagra-like skin rash - neurological manifestations ■Pellucid marginal degeneration ■Pelvic dysplasia - arthrogryposis of lower limbs ■Pelviscapular dysplasia ■Pelvis-shoulder dysplasia ■PELVIS syndrome ■Pemphigoid gestationis ■Pemphigus erythematosus ■Pemphigus foliaceus ■pemphigus seborrheic ■Pemphigus vegetans ■Pemphigus vulgaris ■Pena-Shokeir syndrome type 1 ■Pena-Shokeir syndrome type 2 ■Pendred syndrome ■Penis agenesis ■Penoscrotal transposition ■Pentasomy X ■Penta-X ■Pentosuria ■PEP ■PEPCK1 deficiency ■PEPCK2 deficiency ■PEPCK deficiency ■Perheentupa syndrome ■Periarteritis nodosa ■Pericardial and diaphragmatic defect ■Pericardial constriction - growth failure ■Pericarditis ■Pericarditis - arthropathy - camptodactyly ■Perinatal asphyxia ■Perinatal hypoxia ■Perinatal-lethal Gaucher disease ■Perinatal lethal hypophosphatasia ■Perinatal lethal phosphoethanolaminuria ■Perinatal lethal Rathburn disease ■Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus ■Perineurioma ■Periodic disease ■Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome ■Periodic paralysis type 3 ■Periodic vestibulocerebellar ataxia ■Perioral myoclonia with absences ■Peripartum cardiomyopathy ■Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ■Peripheral dysostosis ■Peripheral fibroblastoma ■Peripheral motor neuropathy - dysautonomia ■Peripheral neuroectodermal cancer of the cervix uteri ■Peripheral neuroectodermal cancer of the corpus uteri ■Peripheral neuropathy and optic atrophy ■Peripheral neuropathy, Fiskerstrand type ■Peripheral precocious puberty ■Peripheral resistance to thyroid hormones ■Peritoneal cystic mesothelioma ■Peritumoral edema derived from brain tumors ■Periventricular leukomalacia ■Periventricular nodular heterotopia ■Perlman syndrome ■Permanent neonatal diabetes mellitus ■Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis ■Perniola-Krajewska-Carnevale syndrome ■Peroxisomal acyl-CoA oxidase deficiency ■Peroxisomal alanine-glyoxylate aminotransferase deficiency ■Perrault syndrome ■PERRS ■Perry syndrome ■Persistent eustachian valve ■Persistent fetal vasculature syndrome ■Persistent fifth aortic arch ■Persistent hyperplastic primary vitreous ■Persistent left superior caval vein connecting to the left-sided atrium ■Persistent left superior vena cava connecting to the left-sided atrium ■Persistent left SVC connecting to the left-sided atrium ■Persistent Mullerian derivatives ■Persistent Mullerian duct syndrome ■Persistent patency of the arterial duct ■Persistent placoid maculopathy ■Perthes disease ■Pertussis ■Peters anomaly ■Peters anomaly - cataract ■Peters anomaly with short limb dwarfism ■Peters congenital glaucoma ■Peters-plus syndrome ■Petges-Clejat syndrome ■Petit-Fryns syndrome ■Petty-Laxova-Wiedemann syndrome ■Peutz-Jeghers syndrome ■PFAPA syndrome ■PFCP ■Pfeiffer-Kapferer syndrome ■Pfeiffer-Mayer syndrome ■Pfeiffer-Palm-Teller syndrome ■Pfeiffer-Singer-Zschiesche syndrome ■Pfeiffer syndrome ■Pfeiffer syndrome type 1 ■Pfeiffer syndrome type 2 ■Pfeiffer syndrome type 3 ■Pfeiffer-Weber-Christian syndrome ■PFFD ■PFIC ■PFIC1 ■PFIC2 ■PFIC3 ■PFVS ■PGNT ■PHA2 ■PHACE syndrome ■Phaco-anaphylactic uveitis ■Phacoanaphylaxis ■PHAII ■Phako-anaphylactic uveitis ■Phakomatosis cesioflammea ■Phakomatosis cesiomarmorata ■Phakomatosis pigmentokeratotica ■Phakomatosis pigmentovascularis ■Phakomatosis pigmentovascularis type 2 ■Phakomatosis pigmentovascularis type 3 ■Phakomatosis pigmentovascularis type 5 ■Phakomatosis spilorosea ■Phantom bone disease ■PHARC ■Pharmacogenetic myopathy of anesthesia ■Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome ■Pharyngeal-cervical-brachial weakness ■Pharyngo-cervico-brachial variant of GBS ■Pharyngo-cervico-brachial variant of Guillain-Barré syndrome ■PHA type 1 ■Phaver syndrome ■PHD syndrome ■Phelan-McDermid syndrome ■Phenobarbital antenatal infection ■Phenobarbital embryopathy ■Phenotypic diarrhea ■Phenylalanine hydroxylase partial deficiency ■Phenylalanine hydroxylase total deficiency ■Phenylketonuria ■Phenylketonuria type 2 ■Phenylketonuric embryopathy ■Phenytoin embryofetopathy ■PHID ■Phocomelia - ectrodactyly - deafness - sinus arrhythmia ■Phocomelia, Schinzel type ■Phocomelia - thrombocytopenia - encephalocele - urogenital malformations ■Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency ■Phosphoenolpyruvate carboxykinase 1 deficiency ■Phosphoenolpyruvate carboxykinase 2 deficiency ■Phosphoenolpyruvate carboxykinase deficiency ■Phosphoethanolaminuria ■Phosphoglucomutase 1 deficiency ■Phosphoglucomutase deficiency ■Phosphoglycerate kinase 1 deficiency ■Phosphoribosylpyrophosphate synthetase superactivity ■Phosphoserine aminotransferase deficiency ■PHPV ■Phyllode tumor ■Phylloide tumor ■Phytanic acid oxidase deficiency ■Phytosterolemia ■PIBIDS syndrome ■Piccardi-Lassueur-Little syndrome ■Pick disease of brain ■Piebaldism ■Piebald trait - neurologic defects ■Pierre Robin sequence - congenital heart defect - talipes ■Pierre Robin sequence - faciodigital anomaly ■Pierre Robin sequence - fetal chondrodysplasia ■Pierre robin sequence - hyperphalangy - clinodactyly ■Pierre Robin sequence - oligodactyly ■Pierre Robin syndrome - congenital heart defect - talipes ■Pierre Robin syndrome - faciodigital anomaly ■Pierre Robin syndrome - fetal chondrodysplasia ■Pierre robin syndrome - hyperphalangy - clinodactyly ■Pierson syndrome ■PIG ■Pigeon-breeder's lung disease ■Pigment anomaly - ectrodactyly - hypodontia ■Pigmentary disorder with hearing loss ■Pigmentary hairy epidermal nevus ■Pigmentary mosaicism, Ito type ■Pigmentary retinopathy - intellectual deficit ■Pigment-dispersion syndrome ■Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome ■Pigmented paravenous retinochoroidal atrophy ■Pigmented villonodular synovitis ■Pili annulati ■Pili bifurcati ■Pili canulati ■Pili multibifurcati ■Pili multigemini ■Pili torti ■Pili torti - developmental delay - neurological abnormalities ■Pili torti - onychodysplasia ■Pili trianguli et canaliculi ■Pillay syndrome ■Pilocytic astrocytoma ■Pilodental dysplasia - refractive errors ■Pilomatrixoma ■Pilomyxoid astrocytoma ■Pilotto syndrome ■Pineal parenchymal tumor of intermediate differenciation ■Pineoblastoma ■Pineocytoma ■Pinheiro-Freire Maia-Miranda syndrome ■Pink disease ■Pinsky-Di George-Harley syndrome ■PIOL ■Pipecolic acidemia ■Pitt-Hopkins-like syndrome ■ Pitt-Hopkins Syndrome ■Pitt-Rogers-Danks syndrome ■Pitt-Williams brachydactyly ■Pituicytoma ■Pituitary apoplexy ■Pituitary deficiency due to empty sella turcica syndrome ■Pituitary deficiency due to Rathke's pouch cysts ■Pituitary dermoid and epidermoid cysts ■Pituitary gonadotrophic adenoma ■Pituitary lactotrophic adenoma ■Pituitary stalk interruption syndrome ■Pituitary thyrotrophic adenoma ■Pityriasis rubra pilaris ■Piussan-Lenaerts-Mathieu syndrome ■PJS ■PKAN ■PKAN, atypical form ■PKAN, classic form ■PKU ■PKU type 2 ■PLA2G6-associated neurodegeneration ■Placental site trophoblastic tumor ■Plague ■PLAN ■Plantar fibromatosis ■Plantar flexion contracture ■Plasmacytoma ■Plasma thromboplastin antecedent deficiency ■Plasminogen deficiency type 1 ■Platelet alpha-granule deficiency ■Platinum oculocutaneous albinism ■Platyspondylic dysplasia, Torrance-Luton type ■Platyspondylic dysplasia, Torrance type ■Platyspondylic lethal chondrodysplasia ■Platyspondylic lethal skeletal dysplasia, Torrance type ■Platyspondyly - amelogenesis imperfecta ■Pleomorphic liposarcoma ■Pleomorphic xanthoastrocytoma ■Pleuro-pericardial cyst ■Pleuropulmonary blastoma ■Pleuro-pulmonary blastoma ■Pleuro-pulmonary blastoma type I ■Pleuro-pulmonary blastoma type II ■Pleuro-pulmonary blastoma type III ■PLOSL ■Plott syndrome ■PLP1 null syndrome ■PLS ■PLSD-T ■Plummer-Vinson syndrome ■Plum syndrome ■PM ■PMD ■PMDS ■PMLD1 ■PMP ■PNDM ■Pneumoblastoma ■Pneumococcal meningitis ■Pneumocystosis ■Pneumonia caused by serotype O11 Pseudomonas Aeruginosa ■Pneumonia caused by serotype O1 Pseudomonas Aeruginosa ■PNH ■PNP deficiency ■PNPO deficiency ■PNPO-related neonatal epileptic encephalopathy ■POADS ■POEMS syndrome ■Poikiloderma - alopecia - retrognathism - cleft palate ■Poikiloderma of Kindler ■Poikiloderma of Rothmund-Thomson ■Poikiloderma of Rothmund-Thomson type 1 ■Poikiloderma of Rothmund-Thomson type 2 ■Poikilodermatomyositis ■Poikilodermatomyositis, Petges-Jacobi type ■Poikiloderma with neutropenia ■Poikiloderma with neutropenia, Clericuzio type ■POIS ■Pokkuri death syndrome ■Poland anomaly ■Poland sequence ■Poland syndrome ■Poliomyelitis ■Pollitt syndrome ■Polyarteritis enterica ■Polyarteritis nodosa ■Polyarthritis without rheumatoid factor ■Polyarthritis without rheumatoid factor with anti-nuclear antibodies ■Polyarthritis without rheumatoid factor without anti-nuclear antibodies ■Polyarthritis with rheumatoid factor ■Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy ■Polycystic liver disease ■Polycystic ovaries - urethral sphincter dysfunction ■Polycythemia rubra vera ■Polycythemia vera ■Polydactyly alopecia seborrheic dermatitis ■Polydactyly - cleft lip/palate - psychomotor retardation ■Polydactyly-myopia syndrome ■Polydactyly of an index finger ■Polydactyly of a triphalangeal thumb ■Polydactyly of the thumb ■Polydactyly postaxial - dental and vertebral anomalies ■Polydactyly postaxial with median cleft of upper lip ■Polyembryoma ■Polyepiphyseal dysplasia ■Polyepiphyseal dysplasia type 1 ■Polyepiphyseal dysplasia type 4 ■Polyepiphyseal dysplasia type 5 ■Polymastia ■Polymicrogyria ■Polymicrogyria - turricephaly - hypogenitalism ■Polymicrogyria with optic nerve hypoplasia ■Polymorphic eruption of pregnancy ■Polymyositis ■Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG ■Polyneuropathy - Endocrinopathy - Plasma cell dyscrasia ■Polyneuropathy - hand defect ■Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract ■Polyneuropathy - hepatosplenomegaly - hyperpigmentation ■Polyneuropathy - intellectual deficit - acromicria - premature menopause ■Polyostotic fibrous dysplasia ■Polyploidy ■Polypoid prolapsing folds ■Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies ■Polyrhinia ■Polysyndactyly ■Polysyndactyly - cardiac malformation ■Polysyndactyly, Haas type ■Polysyndactyly - microcephaly - ptosis ■Polysyndactyly-overgrowth syndrome ■Polyvalvular heart disease syndrome ■Poly-X ■POMA ■POMC deficiency ■Pompe disease ■Pontiac fever ■Pontine tegmental cap dysplasia ■Pontocerebellar hypoplasia type 1 ■Pontocerebellar hypoplasia type 2 ■Pontocerebellar hypoplasia type 3 ■Pontocerebellar hypoplasia type 4 ■Pontocerebellar hypoplasia type 5 ■Pontocerebellar hypoplasia type 6 ■Poorly differentiated endocrine carcinoma of the cervix uteri ■Poorly differentiated endocrine carcinoma of the corpus uteri ■Poorly differentiated endocrine carcinoma of the endometrium ■Poorly differentiated endocrine cervical carcinoma ■Poorly-differentiated thymic neuroendocrine carcinoma ■Popliteal web syndrome ■Poppema lymphoma ■Porak and Durante disease ■Porencephaly ■Porencephaly - cerebellar hypoplasia - internal malformations ■Porokeratosis of Mibelli ■Porokeratosis plantaris palmaris and disseminata ■Porokeratosis punctata palmaris et plantaris ■Porokeratotic eccrine nevus ■Porokeratotic eccrine ostial and dermal duct nevus ■Porphyria cutanea tarda ■Porphyria due to ALA dehydratase deficiency ■Porphyria due to delta-Aminolevulinate dehydratase ■Porphyria due to delta-aminolevulinate dehydratase (ALAD) ■Porphyria of Doss ■Porphyria variegata ■Portal hypertension due to infrahepatic block ■Portal vein thrombosis ■Port-wine nevi - mega cisterna magna - hydrocephalus ■Port-wine stains ■Postanginal sepsis secondary to orophyngeal infection ■Postaxial acrodysostosis ■Postaxial acrofacial dysostosis ■Postaxial polydactyly ■Postaxial polydactyly - intellectual deficit ■Postaxial polydactyly type A ■Postaxial polydactyly type B ■Postaxial syndactyly with metacarpal synostosis ■Postaxial tetramelic oligodactyly ■Postcardiotomy right ventricular failure ■Postencephalitic parkinsonism ■Posterior amorphous corneal dystrophy ■Posterior column ataxia - retinitis pigmentosa ■Posterior cortical atrophy ■Posterior fusion of lumbosacral vertebrae - blepharoptosis ■Posterior meningocele ■Posterior polar cataract ■Posterior polymorphous corneal dystrophy ■Posterior subcapsular cataract ■Posterior urethral valve ■Postlingual nonsyndromic genetic deafness ■Post-neonatal intracerebral hemorrhage ■Postorgasmic illness syndrome ■Postpartum cardiomyopathy ■Post-poliomyelitic syndrome ■Post-poliomyélitis sequelae ■Post-poliomyelitis syndrome ■Post-polio sequelae ■Post-polio syndrome ■Postsynaptic congenital myasthenic syndromes ■Post-transplant acute limbic encephalitis ■Post transplantation graft dysfunction ■Post-transplant lymphoproliferative disease ■Post-traumatic syringomyelia ■POT ■Potassium-aggravated myotonia ■Potassium-sensitive normokalemic periodic paralysis ■Potocki-Lupski syndrome ■Potocki-Shaffer syndrome ■Potter sequence - cleft lip/palate - cardiopathy ■Pouchitis ■Powell-Chandra-Saal syndrome ■Powell-Venencie-Gordon syndrome ■PPA ■PPC ■PPD1 ■PPD2 ■PPD3 ■PPD4 ■PPHS ■PPK ■PPK-CA, Stevanovic type ■PPK-CA, Wallis type ■PPM-X ■PPoma ■PPP ■PPRCA ■Prader-Labhart-Willi syndrome ■Prader-Willi habitus - osteopenia - camptodactyly ■Prader-Willi-like syndrome due to deletion 6q16 ■Prader-Willi syndrome ■Prader-Willi syndrome due to imprinting mutation ■Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ■Prader-Willi syndrome due to paternal 15q11q13 deletion ■Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ■Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ■Prader-Willi syndrome due to translocation ■Prata-Liberal-Goncalves syndrome ■Preaxial acrodysostosis ■Preaxial deficiency - postaxial polydactyly - hypospadias ■Preaxial polydactyly ■Preaxial polydactyly - colobomata - intellectual deficit ■Precalicial canalicular ectasia ■Precursor B-cell acute lymphoblastic leukemia ■Precursor B-cell acute lymphoblastic leukemia/lymphoma ■Precursor B-cell acute lymphocytic leukemia ■Precursor B-cell acute lymphocytic leukemia/lymphoma ■Precursor T-cell acute lymphoblastic leukemia ■Precursor T-cell acute lymphoblastic leukemia/lymphoma ■Precursor T-cell acute lymphocytic leukemia ■Precursor T-cell acute lymphocytic leukemia/lymphoma ■Predisposition to invasive bacterial infections ■Pre-eclampsia ■Preeyasombat-Varavithya syndrome ■Pregnancy-related cholestasis ■Prelingual nonsyndromic genetic deafness ■Premature chromosome condensation with microcephaly and intellectual deficit ■Premature closure of the arterial duct ■Premature closure of the patent ductus arteriosus ■Premature degenerative osteoarthropathy of the hip ■Prenatal benign hypophosphatasia ■Prenatal benign phosphoethanolaminuria ■Prenatal benign Rathburn disease ■Presynaptic congenital myasthenic syndromes ■Pretibial dystrophic epidermolysis bullosa ■Prieto-Badia-Mulas syndrome ■Prieur-Griscelli syndrome ■Primary achalasia ■Primary acquired sideroblastic anemia ■Primary Addison's disease ■Primary amyloidosis ■Primary anetoderma ■Primary angiitis of the central nervous system ■Primary antibody deficiency ■Primary basilar impression ■Primary biliary cirrhosis ■Primary brain lymphoma ■Primary calpainopathy ■Primary central nervous system lymphoma ■Primary ciliary dyskinesia ■Primary ciliary dyskinesia, Kartagener type ■Primary ciliary dyskinesia - retinitis pigmentosa ■Primary congenital erythrocytosis ■Primary cryoglobulinemia ■Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ■Primary cutaneous anaplastic large cell lymphoma ■Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ■Primary cutaneous diffuse large B-cell lymphoma, leg type ■Primary cutaneous follicle center lymphoma ■Primary cutaneous marginal zone B-cell lymphoma ■Primary dystonia, DYT13 type ■Primary dystonia, DYT2 type ■Primary dystonia, DYT4 type ■Primary dystonia, DYT6 type ■Primary dystonia with mixed phenotype ■Primary effusion lymphoma ■Primary erythermalgia ■Primary familial and congenital polycythemia ■Primary familial polycythemia ■Primary Fanconi renotubular syndrome ■Primary Fanconi syndrome ■Primary GH insensitivity ■Primary GH resistance ■Primary growth hormone insensitivity ■Primary growth hormone resistance ■Primary hypergonadotropic hypogonadism - partial alopecia ■Primary hyperkalemic periodic paralysis ■Primary hyperoxaluria type 1 ■Primary hyperoxaluria type 2 ■Primary hyperPP ■Primary hypogammaglobulinemia ■Primary ILD specific to childhood due to pulmonary surfactant protein anomalies ■Primary immunodeficiency syndrome due to p14 deficiency ■Primary immunodeficiency syndrome with short stature ■Primary immunodeficiency with skin granulomas ■Primary insulin-like growth factor deficiency ■Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies ■Primary intestinal lymphangiectasia ■Primary intraocular lymphoma ■Primary intraocular non-Hodgkin's lymphoma ■Primary intraosseous vascular malformation ■Primary laryngeal lymphangioma ■Primary lateral sclerosis ■Primary macular atrophy ■Primary malignant peritoneal mesothelioma ■Primary megaureter, adult-onset form ■Primary melanoma of the central nervous system ■Primary oculocerebral lymphoma ■Primary oculocerebral non-Hodgkin's lymphoma ■Primary orthostatic tremor ■Primary parathyroids hyperplasia ■Primary peritoneal carcinoma ■Primary peritoneal serous carcinoma ■Primary pigmented nodular adrenocortical disease ■Primary plasmacytoma of the bone ■Primary progressive aphasia ■Primary progressive freezing gait ■Primary pulmonary hemosiderosis ■Primary pulmonary lymphoma ■Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria ■Primary sclerosing cholangitis ■Primary syringomyelia ■Primary syringomyelia/hydromyelia ■Primary systemic amyloidosis ■Primary T cell immunodeficiency ■Primary tethered chord syndrome ■Primary tethered spinal cord syndrome ■Primary thymic epithelial neoplasm ■Primary thymic epithelial neoplasm type A ■Primary thymic epithelial neoplasm type AB ■Primary thymic epithelial neoplasm type B ■Primary thymic epithelial tumor ■Primary thymic epithelial tumor type A ■Primary thymic epithelial tumor type AB ■Primary thymic epithelial tumor type B ■Primary torsion dystonia with predominant craniocervical or upper limb onset ■Primary unilateral adrenal hyperplasia ■Primary vasculitis of the central nervous system ■Primerose syndrome ■Primitive anophthalmia ■Primordial microcephalic dwarfism, Crachami type ■Primordial short stature - microdontia - opalescent and rootless teeth ■Proaccelerin deficiency ■Proboscis lateralis ■Progeria ■Progeria - short stature - pigmented nevi ■Progeroid syndrome, De Barsy type ■Progeroid syndrome, Petty type ■Progressiva symmetrica erythrokeratodermia ■Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly ■Progressive bifocal chorioretinal atrophy ■Progressive bulbar paralysis of childhood ■Progressive cavitating leukoencephalopathy ■Progressive cephalothoracic lipodystrophy ■Progressive cerebello-cerebral atrophy ■Progressive cone dystrophy ■Progressive cutaneous systemic scleroderma ■Progressive cutaneous systemic sclerosis ■Progressive deafness with stapes fixation ■Progressive demyelinating neuropathy with bilateral striatal necrosis ■Progressive diaphyseal dysplasia ■Progressive encephalopathy - optic atrophy ■Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy ■Progressive epilepsy - intellectual deficit, Finnish type ■Progressive external ophthalmoplegia ■Progressive external ophthalmoplegia and scoliosis ■Progressive familial intrahepatic cholestasis ■Progressive familial intrahepatic cholestasis type 1 ■Progressive familial intrahepatic cholestasis type 2 ■Progressive familial intrahepatic cholestasis type 3 ■Progressive foveal dystrophy ■Progressive hemifacial atrophy ■Progressive massive osteolysis ■Progressive multifocal leukoencephalitis ■Progressive multifocal leukoencephalopathy ■Progressive myoclonic epilepsy due to KCTD7 deficiency ■Progressive myoclonic epilepsy type 1 ■Progressive myoclonic epilepsy type 2 ■Progressive myoclonic epilepsy type 3 ■Progressive myoclonic epilepsy type 6 ■Progressive neurodegeneration - joint laxity - cataract ■Progressive neuronal degeneration of childhood with liver disease ■Progressive neurosensory deafness - hypertrophic cardiomyopathy ■Progressive neurosensory hearing loss - hypertrophic cardiomyopathy ■Progressive nodular histiocytosis ■Progressive non-fluent aphasia ■Progressive non-infectious anterior vertebral fusion ■Progressive osseous heteroplasia ■Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia ■Progressive pseudorheumatoid arthropathy of childhood ■Progressive sensorineural deafness - hypertrophic cardiomyopathy ■Progressive sensorineural hearing loss - hypertrophic cardiomyopathy ■Progressive supranuclear palsy - apraxia of speech ■Progressive supranuclear palsy - corticobasal syndrome ■Progressive supranuclear palsy - parkinsonism ■Progressive supranuclear palsy - progressive non fluent aphasia ■Progressive supranuclear palsy - pure akinesia with gait freezing ■Progressive symmetric erythrokeratodermia ■Prolactinoma ■Prolidase deficiency ■Proliferating trichilemmal cyst ■Proliferative vasculopathy and hydranencephaly/hydrocephaly ■Proline oxidase deficiency ■Prolonged electroretinal response supression ■Prominent glabella - microcephaly - hypogenitalism ■Properdin deficiency ■Propionic acidemia ■Propionyl-CoA carboxylase deficiency ■Propping Zerres syndrome ■Protein defect of cystin transport ■Protein R deficiency ■Protein S acquired deficiency ■Proteus-like syndrome - intellectual deficit - eye defects ■Proteus syndrome ■Prothrombin deficiency ■Protoplasmic astrocytoma ■Proud-Levine-Carpenter syndrome ■Proximal 11p deletion syndrome ■Proximal focal femoral deficiency ■Proximal myotonic dystrophy ■Proximal myotonic myopathy ■Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit ■Proximal spinal muscular atrophy ■Proximal spinal muscular atrophy type 1 ■Proximal spinal muscular atrophy type 2 ■Proximal spinal muscular atrophy type 3 ■Proximal spinal muscular atrophy type 4 ■Proximal symphalangism ■Proximal tubulopathy - diabetes mellitus - cerebellar ataxia ■Prune belly syndrome ■Pruriginous dystrophic epidermolysis bullosa ■Pruritic urticarial papules and plaques of pregnancy ■Pseudoachondroplasia ■Pseudoachondroplastic dysplasia ■Pseudoachondroplastic spondyloepiphyseal dysplasia ■Pseudoadrenoleukodystrophy ■Pseudoaldosteronism ■Pseudoaminopterin syndrome ■Pseudo-Angelman syndrome ■Pseudodiastrophic dysplasia ■Pseudohermaphroditism - intellectual deficit ■Pseudo-Hurler polydystrophy ■Pseudohyperaldosteronism type 1 ■Pseudohyperaldosteronism type 2 ■Pseudohypoaldosteronism type 1 ■Pseudohypoaldosteronism type 2 ■Pseudohypoaldosteronism type 2A ■Pseudohypoaldosteronism type 2B ■Pseudohypoaldosteronism type 2C ■Pseudohypoparathyroidism type 1A ■Pseudohypoparathyroidism type 1B ■Pseudohypoparathyroidism type 1C ■Pseudohypoparathyroidism type 2 ■Pseudoleprechaunism syndrome, Patterson type ■Pseudomarfanism ■Pseudo-Morquio syndrome type 2 ■Pseudomyxoma peritonei ■Pseudo-NALD ■Pseudo-neonatal adrenoleukodystrophy ■Pseudopapillary ganglioglioneurocytoma ■Pseudopapillary neurocytoma with glial differentiation ■Pseudopapilledema - blepharophimosis - hand anomalies ■Pseudo-pelade of Brocq ■Pseudoprogeria syndrome ■Pseudopseudohypoparathyroidism ■Pseudothalidomide syndrome ■Pseudo-TORCH syndrome ■Pseudotoxoplasmosis syndrome ■Pseudo-trisomy 13 syndrome ■Pseudotumor cerebri ■Pseudotyphus of California ■Pseudo unicornuate uterus ■Pseudo-Von Willebrand disease ■Pseudo-Von Willebrand disease type 2B ■Pseudoxanthoma elasticum ■Pseudoxanthoma elasticum-like papillary dermal elastocytosis ■Pseudoxanthoma elasticum-like syndrome ■Pseudoxanthoma-like late-onset focal dermal elastosis ■Pseudoxanthomatous DCM ■Pseudoxanthomatous diffuse cutaneous mastocytosis ■Pseudo-Zellweger syndrome ■PSIS ■PSP-AOS ■PSP-CBS ■PSP-corticobasal syndrome ■PSP-p ■PSP-PAGF ■PSP-parkinsonism ■PSP-PNFA ■PSP-pure akinesia with gait freezing ■PSST ■Psychogenic dystonia ■Psychogenic movement disorders ■Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency ■PTA deficiency ■PTCD ■PTC-RCC ■Pterygium colli - intellectual deficit - digital anomalies ■Pterygium of the conjunctiva, familial form ■PTLAH ■PTLD ■Ptosis - strabismus - ectopic pupils ■Ptosis - strabismus - rectus abdominis diastasis ■Ptosis - syndactyly - learning difficulties ■Ptosis - upper ocular movement limitation - absence of lacrimal punctum ■Ptosis - vocal cord paralysis ■PUAH ■Pulmonar arteriovenous aneurysm ■Pulmonary agenesis ■Pulmonary alveolar microlithiasis ■Pulmonary aortic stenosis obstructive uropathy ■Pulmonary arterial hypertension - leukopenia - atrial septal defect ■Pulmonary arteriovenous fistula ■Pulmonary artery coming from patent ductus arteriosus ■Pulmonary artery coming from the aorta ■Pulmonary artery familial dilatation ■Pulmonary artery hypoplasia ■Pulmonary atresia - intact ventricular septum ■Pulmonary atresia with ventricular septal defect ■Pulmonary blastoma ■Pulmonary branch stenosis ■Pulmonary capillary hemangiomatosis ■Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia ■Pulmonary fungal infections in patients deemed at risk ■Pulmonary interstitial glycogenosis ■Pulmonary lymphangiomatosis ■Pulmonary nodular lymphoid hyperplasia ■Pulmonary pseudolymphoma ■Pulmonary valve agenesis ■Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus ■Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus ■Pulmonary vein atresia ■Pulmonary venoocclusive disease ■Pulmonic stenosis - brachytelephalangism - calcification of cartilages ■Pulmonic stenosis with 'cafe-au-lait' spots ■Pulpal dysplasia ■Pulp stones ■Pulverulent cataract ■Punch-drunk syndrome ■Pure aldosterone-producing adrenocortical carcinoma ■Pure aldosterone-secreting adrenocortical carcinoma ■Pure APAC ■Pure autonomic failure ■Pure cerebellar syndrome - mild pyramidal signs ■Pure dysautonomia ■Pure idiopatic dysotonomia ■Pure Joubert syndrome ■Pure mitochondrial myopathy ■Pure spastic paraplegia type 2 ■Pure SPG2 ■Puretic syndrome ■Purine nucleoside phosphorylase deficiency ■Purpura fulminans ■Purpura rheumatica ■Purtilo syndrome ■Pustulo-psoriatic hyperostotic spondylarthritis ■Pustulosis palmaris et plantaris ■Pustulosis subcornealis ■PV ■PVA ■PVA/ADA, Fallot type ■PVA/PDA, non Fallot-type ■PXA ■PXE ■PXE-like late-onset focal dermal elastosis ■PXE-like papillary dermal elastocytosis ■PXE-like syndrome ■Pycnodysostosis ■Pyknoachondrogenesis ■Pyknolepsy ■Pyle disease ■Pyoderma gangrenosum ■Pyogenic arthritis - pyoderma gangrenosum - acne ■Pyogenic bacterial infections due to MyD88 deficiency ■Pyomyositis ■Pyramidal molar - glaucoma - upper abnormal lip ■Pyridoxal phosphate-responsive seizures ■Pyridoxamine 5´-oxidase deficiency ■Pyridoxamine 5'-phosphate oxidase deficiency ■Pyridoxa-phosphate dependent seizures ■Pyridoxine-dependent epilepsy ■Pyridoxine-responsive seizures ■Pyridoxine-responsive sideroblastic anemia ■Pyroglutamicaciduria ■Pyruvate carboxylase deficiency ■Pyruvate dehydrogenase complex component E2 deficiency ■Pyruvate dehydrogenase complex component E3 defieincy ■Pyruvate dehydrogenase complex E1 component subunit alpha deficiency ■Pyruvate dehydrogenase complex E1 component subunit beta deficiency ■Pyruvate dehydrogenase deficiency ■Pyruvate dehydrogenase phosphatase deficiency ■Pyruvate dehydrogenase protein X component deficiency ■Pyruvate kinase deficiency of erythrocytes